Canonical Allele Identifier: PA2825068977
Gene: GBA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Ala487Thr
CA10581616
NM_000157.4:c.1459G>A